Exploring the impacts of AI in Healthcare: A Discussion on Rare Diseases

Posted on: Wednesday 6 March 2024

This summary encapsulates insights from a recent webinar titled AI and rare disease: with great power comes great responsibility! This event featured experts Prof Elvira Perez-Vallejos (RAI-UK), Laura MacDonald and Mark Goodyear (Carecircle Technology Ltd), and Dr Tony Lockett (Chair of the FPM Rare Disease Expert Group and Senior Lecturer, King’s College London)


The recent webinar on AI and Rare Diseases hosted by FPM provided a platform for experts to delve into the complex landscape of artificial intelligence (AI) and its applications in healthcare, particularly concerning rare diseases. Amidst the excitement surrounding AI advancements, there’s a growing recognition of its potential environmental impacts, particularly in terms of energy consumption. As AI models grow larger and more complex, so does their demand for power, raising concerns about sustainability.

However, it’s not just environmental impacts that are under scrutiny. There’s a broader conversation about the potential deskilling effect of AI, particularly in fields like radiology. Some fear that AI could replace human expertise, leading to job losses and a reduction in overall skills. Yet, there’s a counter argument that AI has the potential to enhance human capabilities, making professionals more efficient and effective in their roles.

In the realm of rare diseases, AI presents both opportunities and challenges. On one hand, AI-powered diagnostics and treatments hold promise for improving patient outcomes and streamlining healthcare delivery. On the other hand, there are concerns about data biases, accessibility, and ethical implications. Rare diseases often lack sufficient data for AI models to learn from, and there’s a risk of exacerbating existing health inequities if not addressed properly.

The speakers highlighted the importance of a balanced approach to AI integration in healthcare, one that emphasises collaboration between AI developers, healthcare professionals, and patients. They stressed the need for human oversight, ethical considerations, and ongoing dialogue to ensure that AI complements rather than replaces human expertise.

Moreover, they discussed ongoing initiatives to address these challenges, such as the development of rare disease-focused digital health hubs and the use of AI to improve diagnostics and patient care. These efforts underscore the potential of AI to transform healthcare, provided that it’s deployed responsibly and ethically.

In conclusion, while AI holds great promise for advancing healthcare, particularly in the realm of rare diseases, it’s essential to approach its integration thoughtfully. By addressing concerns around environmental impact, deskilling, data biases, and accessibility, we can harness the full potential of AI to improve patient outcomes and drive meaningful progress in healthcare.


This summary was drafted by ChatGPT3.5 from a transcript of the event, and copy edited by FPM staff and Dr Tony Lockett.

Hungry for more AI?

  • Our upcoming FPM Annual Symposium will discuss advances in AI, genomics and precision medicine, and other new technologies.